Nürnberg P - Search Results

1

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.

Budde BS, Aly MA, Mohamed MR, Breß A, Altmüller J, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Nürnberg G, Sayed EAF, Mohamed ES, Pfister M, Nürnberg P. Budde BS, et al. Among authors: nurnberg p, nurnberg g. Clin Genet. 2020 Jul;98(1):32-42. doi: 10.1111/cge.13754. Epub 2020 Apr 23. Clin Genet. 2020. PMID: 32279305

2

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Becker C, Nürnberg P. Sander T, et al. Among authors: nurnberg p. Epilepsy Res. 2002 Apr;49(2):173-7. doi: 10.1016/s0920-1211(02)00025-6. Epilepsy Res. 2002. PMID: 12049805

3

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: nurnberg p. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

4

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S. Pfister M, et al. Among authors: nurnberg p. Mol Med. 2002 Oct;8(10):607-11. Mol Med. 2002. PMID: 12477971 Free PMC article.

5

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Donaudy F, et al. Among authors: nurnberg p. Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015131 Free PMC article.

6

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Thiele H, et al. Among authors: nurnberg p. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60. doi: 10.1073/pnas.0400334101. Epub 2004 Jun 23. Proc Natl Acad Sci U S A. 2004. PMID: 15215498 Free PMC article.

7

HaploPainter: a tool for drawing pedigrees with complex haplotypes.

Thiele H, Nürnberg P. Thiele H, et al. Among authors: nurnberg p. Bioinformatics. 2005 Apr 15;21(8):1730-2. doi: 10.1093/bioinformatics/bth488. Epub 2004 Sep 17. Bioinformatics. 2005. PMID: 15377505

8

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.

Suk EK, Malkin I, Dahm S, Kalichman L, Ruf N, Kobyliansky E, Toliat M, Rutsch F, Nürnberg P, Livshits G. Suk EK, et al. Among authors: nurnberg p. Arthritis Res Ther. 2005;7(5):R1082-90. doi: 10.1186/ar1786. Epub 2005 Jul 13. Arthritis Res Ther. 2005. PMID: 16207325 Free PMC article.

9

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: nurnberg p. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745

10

New universal primers facilitate Pyrosequencing.

Aydin A, Toliat MR, Bähring S, Becker C, Nürnberg P. Aydin A, et al. Among authors: nurnberg p. Electrophoresis. 2006 Feb;27(2):394-7. doi: 10.1002/elps.200500467. Electrophoresis. 2006. PMID: 16331584

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